title: Deciphering the fine-structure of tribal admixture in the Bedouin population using genomic data.
abstract: The Bedouin Israeli population is highly inbred and structured with a very high prevalence of recessive diseases. Many studies in the past two decades focused on linkage analysis in large, multiple consanguineous pedigrees of this population. The advent of high-throughput technologies motivated researchers to search for rare variants shared between smaller pedigrees, integrating data from clinically similar yet seemingly non-related sporadic cases. However, such analyses are challenging because, without pedigree data, there is no prior knowledge regarding possible relatedness between the sporadic cases. Here, we describe models and techniques for the study of relationships between pedigrees and use them for the inference of tribal co-ancestry, delineating the complex social interactions between different tribes in the Negev Bedouins of southern Israel. Through our analysis, we differentiate between tribes that share many yet small genomic segments because of co-ancestry versus tribes that share larger segments because of recent admixture. The emergent pattern is well correlated with the prevalence of rare mutations in the different tribes. Tribes that do not intermarry, mostly because of social restrictions, hold private mutations, whereas tribes that do intermarry demonstrate a genetic flow of mutations between them. Thus, social structure within an inbred community can be delineated through genomic data, with implications to genetic counseling and genetic mapping.
authors.affiliation: The Morris Kahn Laboratory of Human Genetics at the National Institute for Biotechnology in the Negev (NIBN) and Faculty of Health Sciences, Ben Gurion University, Beer-Sheva, Israel.
authors.forename: B
authors.initials: B
authors.lastname: Markus
authors.affiliation: Soroka Medical Center, The Genetics Institute, Beer-sheva, Israel.
authors.forename: I
authors.initials: I
authors.lastname: Alshafee
authors.affiliation: 1] The Morris Kahn Laboratory of Human Genetics at the National Institute for Biotechnology in the Negev (NIBN) and Faculty of Health Sciences, Ben Gurion University, Beer-Sheva, Israel [2] Soroka Medical Center, The Genetics Institute, Beer-sheva, Israel.
authors.forename: O S
authors.initials: OS
authors.lastname: Birk
mesh_terms: D003241:Consanguinity; D018703:Founder Effect; D005828:Genetics, Population; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009154:Mutation; D044382:Population Groups / Q000235:genetics*; D015995:Prevalence